Allele-specific transcript isoforms in human
Allele-specific transcript isoforms in human
复制标题
DOI：
10.1016/j.febslet.2004.10.018
复制
发表时间：
2004-11-05
期刊：
影响因子：
3.5
通讯作者：
Seoighe, C
中科院分区：
文献类型：
--
作者：
Nembaware, V;Wolfe, KH;Seoighe, C
通过选择性mRNA剪接产生多于一种转录异构体的人类基因数量的估计依赖于一个基因的多个转录异构体的观察可以完全归因于选择性剪接的假设。然而，有可能在很大比例的情况下，一个基因的多个转录本是由等位基因之间的差异造成的。已经报道了许多不同等位基因的不同剪接的例子，但没有系统地估计受这种多态性影响的选择性剪接基因的比例。基于对dbSNP、dbEST和ASAP数据库的综合分析，我们发现替代转录异构体与紧密连锁的核苷酸多态性非随机相关。从观察到的转录异构体和多态性之间的关联水平来看，我们估计21%的可选剪接基因受到多态性的影响，这些多态性要么完全决定了所观察到的转录物的形式，要么改变了某些可选异构体的相对丰度。我们提供了这个估计的保守下限6%，并指出除非从同一等位基因观察到多个转录本，否则不能绝对证实选择性剪接。(C) 2004年欧洲生化学会联合会。Elsevier B.V.版权所有。
Estimates of the number of human genes that produce more than one transcript isoform through alternative mRNA splicing depend on the assumption that the observation of multiple transcripts from a gene can be attributed entirely to alternative splicing. It is possible, however, that a substantial proportion of cases where multiple transcripts have been observed for a gene result from differences between alleles. Many examples of genes that are spliced differently from different alleles have been reported but no systematic estimate of the proportion of alternatively spliced genes that are affected by such polymorphisms has been carried out. We find that alternative transcript isoforms are non-randomly associated with closely linked nucleotide polymorphisms, based on an integrated analysis of the dbSNP, dbEST and ASAP databases. From the observed level of association between transcript isoforms and polymorphisms, we estimate that 21% of alternatively spliced genes are affected by polymorphisms that either completely determine which form of the transcript is observed or alter the relative abundances of some of the alternative isoforms. We provide a conservative lower bound of 6% on this estimate and point out that alternative splicing cannot be confirmed absolutely unless more than one transcript is observed from the same allele. (C) 2004 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.